NM_203447.3(DOCK8):c.541C>G (p.His181Asp)Rat Genome Database

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Variant : CV723541 (NM_203447.3(DOCK8):c.541C>G (p.His181Asp)) Homo sapiens

Symbol: CV723541
Name: NM_203447.3(DOCK8):c.541C>G (p.His181Asp)
RGD ID: 15157297
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000880794]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 12/31/2019
Review Status: criteria provided, conflicting interpretations|criteria provided, single submitter
Related Genes: DOCK8  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001190458.2:c.337C>G
NM_001193536.1:c.337C>G
NM_203447.3:c.541C>G
NG_017007.1:g.102102C>G
NC_000009.12:g.311966C>G
NC_000009.11:g.311966C>G
NP_001177387.1:p.His113Asp
NP_001180465.1:p.His113Asp
NP_982272.2:p.His181Asp
LRG_196t1:c.541C>G
LRG_196:g.102102C>G
LRG_196p1:p.His181Asp
Position
Human AssemblyChrPosition (strand)Source
GRCh389311,966 - 311,966CLINVAR
GRCh379311,966 - 311,966CLINVAR
Cytogenetic Map99p24.3CLINVAR
Trait Synonyms: AR hyperimmunoglobulin E syndrome; HIES autosomal recessive; Hyper Ig E syndrome, autosomal recessive; HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000880794 CLINVAR
dbSNP (RS) rs200684000 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR